rs777980327, APC

N. diseases: 21
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.050 1.000 5 2009 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.040 1.000 4 2009 2017
Carcinogenesis
CUI: C0596263
Disease: Carcinogenesis
355 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2010 2013
Malignant neoplasm of colon and/or rectum
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
502 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.020 1.000 2 2009 2017
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
237 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1 2007 2007
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
275 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1 2007 2007
Gastro-enteropancreatic neuroendocrine tumor
CUI: C2930967
Disease: Gastro-enteropancreatic neuroendocrine tumor
4 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
Hereditary Nonpolyposis Colorectal Cancer
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
1331 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Hyperplastic Polyp
CUI: C0333983
Disease: Hyperplastic Polyp
22 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
Lynch Syndrome
CUI: C4552100
Disease: Lynch Syndrome
65 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
Malignant transformation
CUI: C1608408
Disease: Malignant transformation
20 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
688 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1 2007 2007
melanoma
CUI: C0025202
Disease: melanoma
515 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
MSI-high
CUI: C4523846
Disease: MSI-high
9 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
20 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2016 2016
Papillary Meningioma
CUI: C3163622
Disease: Papillary Meningioma
3 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
polyps
CUI: C0032584
Disease: polyps
18 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
Pseudomyxoma Peritonei
CUI: C0033822
Disease: Pseudomyxoma Peritonei
3 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
Rhabdoid meningioma
CUI: C0259786
Disease: Rhabdoid meningioma
3 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015